ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.532G>A (p.Val178Ile) (rs118203395)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164135 SCV000214750 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV000724965 SCV000284730 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724965 SCV000484491 uncertain significance not provided 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000122198 SCV000518098 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000228124 SCV000928337 uncertain significance Tuberous sclerosis 1 2018-02-27 criteria provided, single submitter clinical testing PP3
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724965 SCV001155803 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042305 SCV000066094 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122198 SCV000086417 not provided not specified 2013-09-19 no assertion provided reference population

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